Histological detail of muscle from a horse with severe type1 polysaccharide storage myopathy, revealing the polyglucosan inclusions and m...
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase.
- Citation data:
Biochimica et biophysica acta, ISSN: 0006-3002, Vol: 1861, Issue: 1 Pt A, Page: 3388-3398
- Publication Year:
- Biochemistry, Genetics and Molecular Biology
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Equine type 1 polysaccharide storage myopathy (PSSM1) is associated with a missense mutation (R309H) in the glycogen synthase (GYS1) gene, enhanced glycogen synthase (GS) activity and excessive glycogen and amylopectate inclusions in muscle.